|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
SRY was investigated in 71 out of 85 TS cases (aged 3 months-27 years) between 2005 and 2017.
|
30685428 |
2019 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Localization of the SRY Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10).
|
30466086 |
2018 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in WT1 gene and a hemizygous mutation in SRY gene were detected in patients with gonadal dysgenesis.
|
27898418 |
2017 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.
|
28618411 |
2017 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thirty-two patients were excluded due to Turner syndrome (n = 28), SRY-positive 46,XX male karyotype (n = 1), or lacked clinical follow-up information (n = 3).
|
27814343 |
2017 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient's disorder of sexual development.
|
27821113 |
2016 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
|
26871559 |
2015 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Numerical and structural chromosomal abnormalities were noted in 115 (34.0%) patients which included 45,X Turner syndrome (10.7%), Turner syndrome variants (13.9%), XY females (6.5%), 45,X/46,XY (0.9%), 46,XX/46,XY (0.6%), 47,XXX (0.3%), 47,XX,+ mar (0.3%), 46,X,i(X)(p10) (0.3%), 46,XX with SRY gene translocation on X chromosome (0.3%) and 46,XX,inv(7)(p10;q11.2) (0.3%).
|
23279116 |
2013 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms.
|
23624391 |
2013 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
An 11-and-a-half-year-old girl with 45,X karyotype showed signs of accelerated growth and clitoromegaly and was found to have elevated serum T. Fluorescence in situ hybridization was used to confirm her karyotype as monosomy X and absence of the SRY gene.
|
21496812 |
2011 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely.
|
20699606 |
2011 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.
|
20453312 |
2010 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
|
20838034 |
2010 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome.
|
19188812 |
2009 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This observation of somatic and germinal mosaicism for a SRY mutation may explain the variable penetrance in some familial gonadal dysgenesis.
|
19531589 |
2009 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR.
|
18545811 |
2008 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Subsequent study revealed that she is a 46 XY phenotypic female adolescent with complete gonadal dysgenesis and with no alterations of the sex-determining region Y gene.
|
18580319 |
2008 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.
|
19030103 |
2008 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype.
|
16675314 |
2007 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
|
17493621 |
2007 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
An unselected series of 171 patients with UTS (1-34 years old), diagnosed cytogenetically, was studied for Y-chromosome markers (SRY and Y-centromeric DYZ3 repeats).
|
15880570 |
2005 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.
|
15665984 |
2005 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.
|
15687343 |
2005 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we explored potential clinical applications of AF cffDNA by testing its ability to hybridize to DNA microarrays for comparative genomic hybridization (CGH) analysis. cffDNA isolated from 11 male fetuses showed significantly increased hybridization signals on SRY and decreased signals on X-chromosome markers, compared with female reference DNA. cffDNA isolated from six female fetuses showed the reverse when compared with male reference DNA. cffDNA from three fetuses with trisomy 21 had increased hybridization signals on the majority of the chromosome 21 markers, and cffDNA from a fetus with monosomy X (Turner syndrome) had decreased hybridization signals on most X-chromosome markers, compared with euploid female reference DNA.
|
15252756 |
2004 |